| Actionable exomic incidental findings in 6503 participants: challenges of variant classification LM Amendola, MO Dorschner, PD Robertson, JS Salama, R Hart, ... Genome research 25 (3), 305-315, 2015 | 398 | 2015 |
| “What does it mean?”: uncertainties in understanding results of chromosomal microarray testing M Reiff, BA Bernhardt, S Mulchandani, D Soucier, D Cornell, RE Pyeritz, ... Genetics in medicine 14 (2), 250-258, 2012 | 131 | 2012 |
| Parents’ perceptions of the usefulness of chromosomal microarray analysis for children with autism spectrum disorders M Reiff, E Giarelli, BA Bernhardt, E Easley, NB Spinner, PL Sankar, ... Journal of autism and developmental disorders 45, 3262-3275, 2015 | 99 | 2015 |
| Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure S Mulchandani, EJ Bhoj, M Luo, N Powell-Hamilton, K Jenny, KW Gripp, ... Genetics in Medicine 18 (4), 309-315, 2016 | 87 | 2016 |
| Interstitial microduplication of Xp22. 31: Causative of intellectual disability or benign copy number variant? F Li, Y Shen, U Köhler, FH Sharkey, D Menon, L Coulleaux, V Malan, ... European journal of medical genetics 53 (2), 93-99, 2010 | 85 | 2010 |
| Clinical features of three girls with mosaic genome‐wide paternal uniparental isodisomy JM Kalish, LK Conlin, TR Bhatti, HA Dubbs, MC Harris, K Izumi, ... American journal of medical genetics Part A 161 (8), 1929-1939, 2013 | 80 | 2013 |
| Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families M Reiff, K Ross, S Mulchandani, KJ Propert, RE Pyeritz, NB Spinner, ... Clinical genetics 83 (1), 23-30, 2013 | 68 | 2013 |
| Subtelomeric deletion of chromosome 10p15. 3: clinical findings and molecular cytogenetic characterization C DeScipio, L Conlin, J Rosenfeld, J Tepperberg, R Pasion, A Patel, ... American journal of medical genetics Part A 158 (9), 2152-2161, 2012 | 59 | 2012 |
| Use of a dynamic genetic testing approach for childhood-onset epilepsy J Balciuniene, ET DeChene, G Akgumus, EJ Romasko, K Cao, HA Dubbs, ... JAMA network Open 2 (4), e192129-e192129, 2019 | 58 | 2019 |
| Deletions and other structural abnormalities of the autosomes NB Spinner, LK Conlin, S Mulchandani, BS Emanuel Emery Rimoin's Essen Med Gene 161 (10.1016), 2013 | 42 | 2013 |
| “Set in stone” or “ray of hope”: Parents’ beliefs about cause and prognosis after genomic testing of children diagnosed with ASD M Reiff, E Bugos, E Giarelli, BA Bernhardt, NB Spinner, PL Sankar, ... Journal of Autism and Developmental Disorders 47, 1453-1463, 2017 | 36 | 2017 |
| Bilateral Pheochromocytomas, Hemihyperplasia, and Subtle Somatic Mosaicism: The Importance of Detecting Low‐L evel Uniparental Disomy JM Kalish, LK Conlin, S Mostoufi‐Moab, AB Wilkens, S Mulchandani, ... American Journal of Medical Genetics Part A 161 (5), 993-1001, 2013 | 28 | 2013 |
| A Qualitative Study of Healthcare Providers’ Perspectives on the Implications of Genome‐Wide Testing in Pediatric Clinical Practice M Reiff, R Mueller, S Mulchandani, NB Spinner, RE Pyeritz, BA Bernhardt Journal of genetic counseling 23 (4), 474-488, 2014 | 27 | 2014 |
| Mosaic trisomy 17: variable clinical and cytogenetic presentation R Daber, KA Chapman, E Ruchelli, S Kasperski, S Mulchandani, BD Thiel, ... American Journal of Medical Genetics Part A 155 (10), 2489-2495, 2011 | 24 | 2011 |
| Mosaic maternal uniparental disomy of chromosome 15 in Prader–Willi syndrome: Utility of genome‐wide SNP array K Izumi, AB Santani, MA Deardorff, HA Feret, T Tischler, BD Thiel, ... American Journal of Medical Genetics Part A 161 (1), 166-171, 2013 | 22 | 2013 |
| States LJ, Swarr DT, Wilkens AB, Zackai EH, Zelley K, Bartolomei MS, Nichols KE, Palladino AA, Spinner NB, Deardorff MA. Clinical features of three girls with mosaic genome … JM Kalish, LK Conlin, TR Bhatti, HA Dubbs, MC Harris, K Izumi, ... Am J Med Genet A. A 161, 1929-1939, 2013 | 11 | 2013 |
| CMIP haploinsufficiency in two patients with autism spectrum disorder and co‐occurring gastrointestinal issues M Luo, J Fan, TL Wenger, MH Harr, M Racobaldo, S Mulchandani, ... American Journal of Medical Genetics Part A 173 (8), 2101-2107, 2017 | 9 | 2017 |
| Detection of mutually exclusive mosaicism in a girl with genotype‐phenotype discrepancies M Luo, S Mulchandani, HA Dubbs, D Swarr, L Pyle, EH Zackai, ... American Journal of Medical Genetics Part A 167 (12), 3091-3095, 2015 | 5 | 2015 |
| Genomic variation: what does it mean M Reiff, BA Bernhardt, S Mulchandani LDI Issue Brief 18 (4), 1-4, 2013 | 3 | 2013 |
| P532: Development, implementation, and preliminary results of rapid targeted genomic analysis in the newborn period E Bedoukian, S Reichert, E DeChene, A Heck, J Hershey, M McManus, ... Genetics in Medicine Open 2, 2024 | | 2024 |
